skip banner - Return to original view
site viewing options
 
Parents|Medical Information|Professionals|In your area|Campaigns

Joubert syndrome

What are the causes?

Joubert syndrome is caused by changes in a gene on chromosome 9. These changes affect development of certain parts of the brain including the cerebellar vermis and brain stem. The cerebellar vermis is responsible for controlling posture, co-ordinating head and eye movements and fine-tuning muscles. The brain stem is responsible for maintaining the body's involuntary functions such as heartbeat, breathing, and thermoregulation. The cerebellar vermis and brain stem are underdeveloped or absent in individuals with Joubert syndrome. Such changes may be identified on an MRI scan of the brain.

View What are the symptoms? What are the symptoms?  |  How is it treated? View How is it treated?

Medical text written May 2003 by Contact a Family. Approved May 2003 by Professor M Patton, Professor of Medical Genetics, St George's Hospital Medical School, London, UK.

 

Tell us what you think of this information...

Print whole article Print whole article

 

This Web Site © Copyright, Contact a Family 2008
Contact a Family, 209-211 City Road, London EC1V 1JN
Tel: (020) 7608 8700

Registered Charity No. 284912. Charity registered in Scotland No. SC039169
Company limited by guarantee, registered in England and Wales No. 1633333.
HM Revenue & Customs charity tax reference No. XN54769. VAT Reg. No. GB 749 3846 82